UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32089277G>A | CA3735480 | TNXB | c.2461C>T (p.Arg821Ter) c.2317C>T (p.Arg773Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089277G>C | CA363463665 | TNXB | c.2461C>G (p.Arg821Gly) c.2317C>G (p.Arg773Gly) | |
| 6 | g.32089277G= | CA1619419673 | TNXB | c.2461C= (p.Arg821=) c.2317C= (p.Arg773=) | |
| 6 | g.32089277G>T | CA449703114 | TNXB | c.2461C>A (p.Arg821=) c.2317C>A (p.Arg773=) | |
| 6 | g.32089278G>A | CA449703115 | TNXB | c.2460C>T (p.Val820=) c.2316C>T (p.Val772=) | |
| 6 | g.32089278G>C | CA449703117 | TNXB | c.2460C>G (p.Val820=) c.2316C>G (p.Val772=) | |
| 6 | g.32089278G>T | CA449703118 | TNXB | c.2460C>A (p.Val820=) c.2316C>A (p.Val772=) | |
| 6 | g.32089279A>C | CA363463684 | TNXB | c.2459T>G (p.Val820Gly) c.2315T>G (p.Val772Gly) | |
| 6 | g.32089279A>G | CA363463672 | TNXB | c.2459T>C (p.Val820Ala) c.2315T>C (p.Val772Ala) | |
| 6 | g.32089279A>T | CA363463668 | TNXB | c.2459T>A (p.Val820Asp) c.2315T>A (p.Val772Asp) | |
| 6 | g.32089280C>A | CA363463697 | TNXB | c.2458G>T (p.Val820Phe) c.2314G>T (p.Val772Phe) | |
| 6 | g.32089280C>G | CA363463698 | TNXB | c.2458G>C (p.Val820Leu) c.2314G>C (p.Val772Leu) | |
| 6 | g.32089280C>T | CA363463706 | TNXB | c.2458G>A (p.Val820Ile) c.2314G>A (p.Val772Ile) | |
| 6 | g.32089281A>C | CA449703119 | TNXB | c.2457T>G (p.Thr819=) c.2313T>G (p.Thr771=) | |
| 6 | g.32089281A>G | CA449703120 | TNXB | c.2457T>C (p.Thr819=) c.2313T>C (p.Thr771=) | |
| 6 | g.32089281A>T | CA449703121 | TNXB | c.2457T>A (p.Thr819=) c.2313T>A (p.Thr771=) | |
| 6 | g.32089282G>A | CA3735481 | TNXB | c.2456C>T (p.Thr819Ile) c.2312C>T (p.Thr771Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32089282G>C | CA363463725 | TNXB | c.2456C>G (p.Thr819Ser) c.2312C>G (p.Thr771Ser) | |
| 6 | g.32089282G= | CA1619419674 | TNXB | c.2456C= (p.Thr819=) c.2312C= (p.Thr771=) | |
| 6 | g.32089282G>T | CA3735482 | TNXB | c.2456C>A (p.Thr819Asn) c.2312C>A (p.Thr771Asn) | dbSNP ExAC gnomAD v2 |
| 6 | g.32089283T>A | CA363463731 | TNXB | c.2455A>T (p.Thr819Ser) c.2311A>T (p.Thr771Ser) | |
| 6 | g.32089283T>C | CA363463733 | TNXB | c.2455A>G (p.Thr819Ala) c.2311A>G (p.Thr771Ala) | |
| 6 | g.32089283T>G | CA363463732 | TNXB | c.2455A>C (p.Thr819Pro) c.2311A>C (p.Thr771Pro) | |
| 6 | g.32089284G>A | CA449703122 | TNXB | c.2454C>T (p.Val818=) c.2310C>T (p.Val770=) | |
| 6 | g.32089284G>C | CA449703123 | TNXB | c.2454C>G (p.Val818=) c.2310C>G (p.Val770=) | |
| 6 | g.32089284G>T | CA449703124 | TNXB | c.2454C>A (p.Val818=) c.2310C>A (p.Val770=) | |
| 6 | g.32089285A>C | CA363463735 | TNXB | c.2453T>G (p.Val818Gly) c.2309T>G (p.Val770Gly) | |
| 6 | g.32089285A>G | CA363463737 | TNXB | c.2453T>C (p.Val818Ala) c.2309T>C (p.Val770Ala) | |
| 6 | g.32089285A>T | CA363463745 | TNXB | c.2453T>A (p.Val818Asp) c.2309T>A (p.Val770Asp) | COSMIC COSMIC |
| 6 | g.32089286C>A | CA363463756 | TNXB | c.2452G>T (p.Val818Phe) c.2308G>T (p.Val770Phe) | |
| 6 | g.32089286C= | CA1619419675 | TNXB | c.2452G= (p.Val818=) c.2308G= (p.Val770=) | |
| 6 | g.32089286C>G | CA363463763 | TNXB | c.2452G>C (p.Val818Leu) c.2308G>C (p.Val770Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089286C>T | CA363463771 | TNXB | c.2452G>A (p.Val818Ile) c.2308G>A (p.Val770Ile) | |
| 6 | g.32089287C>A | CA363463775 | TNXB | c.2451G>T (p.Gln817His) c.2307G>T (p.Gln769His) | |
| 6 | g.32089287C= | CA1619419676 | TNXB | c.2451G= (p.Gln817=) c.2307G= (p.Gln769=) | |
| 6 | g.32089287C>G | CA363463787 | TNXB | c.2451G>C (p.Gln817His) c.2307G>C (p.Gln769His) | |
| 6 | g.32089287C>T | CA449703125 | TNXB | c.2451G>A (p.Gln817=) c.2307G>A (p.Gln769=) | |
| 6 | g.32089288T>A | CA3735483 | TNXB | c.2450A>T (p.Gln817Leu) c.2306A>T (p.Gln769Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32089288T>C | CA363463801 | TNXB | c.2450A>G (p.Gln817Arg) c.2306A>G (p.Gln769Arg) | |
| 6 | g.32089288T>G | CA363463810 | TNXB | c.2450A>C (p.Gln817Pro) c.2306A>C (p.Gln769Pro) | |
| 6 | g.32089288T= | CA1619419677 | TNXB | c.2450A= (p.Gln817=) c.2306A= (p.Gln769=) | |
| 6 | g.32089289_32089291dup | CA823932650 | TNXB | c.2448_2450dup (p.Tyr816_Gln817insHis) c.2304_2306dup (p.Tyr768_Gln769insHis) | dbSNP |
| 6 | g.32089289G>A | CA363463816 | TNXB | c.2449C>T (p.Gln817Ter) c.2305C>T (p.Gln769Ter) | |
| 6 | g.32089289G>C | CA363463838 | TNXB | c.2449C>G (p.Gln817Glu) c.2305C>G (p.Gln769Glu) | |
| 6 | g.32089289G>T | CA363463829 | TNXB | c.2449C>A (p.Gln817Lys) c.2305C>A (p.Gln769Lys) | |
| 6 | g.32089290G>A | CA449703126 | TNXB | c.2448C>T (p.Tyr816=) c.2304C>T (p.Tyr768=) | |
| 6 | g.32089290G>C | CA363463844 | TNXB | c.2448C>G (p.Tyr816Ter) c.2304C>G (p.Tyr768Ter) | |
| 6 | g.32089290G>T | CA363463849 | TNXB | c.2448C>A (p.Tyr816Ter) c.2304C>A (p.Tyr768Ter) | |
| 6 | g.32089291T>A | CA363463861 | TNXB | c.2447A>T (p.Tyr816Phe) c.2303A>T (p.Tyr768Phe) | |
| 6 | g.32089291T>C | CA363463867 | TNXB | c.2447A>G (p.Tyr816Cys) c.2303A>G (p.Tyr768Cys) | |
| 6 | g.32089291T>G | CA363463874 | TNXB | c.2447A>C (p.Tyr816Ser) c.2303A>C (p.Tyr768Ser) | |
| 6 | g.32089292A>C | CA363463877 | TNXB | c.2446T>G (p.Tyr816Asp) c.2302T>G (p.Tyr768Asp) | |
| 6 | g.32089292A>G | CA363463884 | TNXB | c.2446T>C (p.Tyr816His) c.2302T>C (p.Tyr768His) | |
| 6 | g.32089292A>T | CA363463888 | TNXB | c.2446T>A (p.Tyr816Asn) c.2302T>A (p.Tyr768Asn) | |
| 6 | g.32089293C>A | CA363463906 | TNXB | c.2445G>T (p.Glu815Asp) c.2301G>T (p.Glu767Asp) | |
| 6 | g.32089293C>G | CA363463911 | TNXB | c.2445G>C (p.Glu815Asp) c.2301G>C (p.Glu767Asp) | |
| 6 | g.32089293C>T | CA449703127 | TNXB | c.2445G>A (p.Glu815=) c.2301G>A (p.Glu767=) | |
| 6 | g.32089294T>A | CA363463920 | TNXB | c.2444A>T (p.Glu815Val) c.2300A>T (p.Glu767Val) | |
| 6 | g.32089294T>C | CA363463923 | TNXB | c.2444A>G (p.Glu815Gly) c.2300A>G (p.Glu767Gly) | |
| 6 | g.32089294T>G | CA363463938 | TNXB | c.2444A>C (p.Glu815Ala) c.2300A>C (p.Glu767Ala) | |
| 6 | g.32089295C>A | CA363463945 | TNXB | c.2443G>T (p.Glu815Ter) c.2299G>T (p.Glu767Ter) | |
| 6 | g.32089295C>G | CA363463961 | TNXB | c.2443G>C (p.Glu815Gln) c.2299G>C (p.Glu767Gln) | |
| 6 | g.32089295C>T | CA363463947 | TNXB | c.2443G>A (p.Glu815Lys) c.2299G>A (p.Glu767Lys) | |
| 6 | g.32089296C>A | CA363463966 | TNXB | c.2442G>T (p.Gln814His) c.2298G>T (p.Gln766His) | |
| 6 | g.32089296C= | CA1619419678 | TNXB | c.2442G= (p.Gln814=) c.2298G= (p.Gln766=) | |
| 6 | g.32089296C>G | CA363463976 | TNXB | c.2442G>C (p.Gln814His) c.2298G>C (p.Gln766His) | |
| 6 | g.32089296C>T | CA449703128 | TNXB | c.2442G>A (p.Gln814=) c.2298G>A (p.Gln766=) | dbSNP gnomAD v2 |
| 6 | g.32089297T>A | CA363463984 | TNXB | c.2441A>T (p.Gln814Leu) c.2297A>T (p.Gln766Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32089297T>C | CA136900905 | TNXB | c.2441A>G (p.Gln814Arg) c.2297A>G (p.Gln766Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32089297T>G | CA363463987 | TNXB | c.2441A>C (p.Gln814Pro) c.2297A>C (p.Gln766Pro) | |
| 6 | g.32089297T= | CA1619419679 | TNXB | c.2441A= (p.Gln814=) c.2297A= (p.Gln766=) | |
| 6 | g.32089298G>A | CA363463999 | TNXB | c.2440C>T (p.Gln814Ter) c.2296C>T (p.Gln766Ter) | dbSNP gnomAD v2 |
| 6 | g.32089298G>C | CA363464001 | TNXB | c.2440C>G (p.Gln814Glu) c.2296C>G (p.Gln766Glu) | |
| 6 | g.32089298G= | CA1619419680 | TNXB | c.2440C= (p.Gln814=) c.2296C= (p.Gln766=) | |
| 6 | g.32089298G>T | CA363464011 | TNXB | c.2440C>A (p.Gln814Lys) c.2296C>A (p.Gln766Lys) | gnomAD v4 |
| 6 | g.32089299T>A | CA449703129 | TNXB | c.2439A>T (p.Gly813=) c.2295A>T (p.Gly765=) | |
| 6 | g.32089299T>C | CA449703130 | TNXB | c.2439A>G (p.Gly813=) c.2295A>G (p.Gly765=) | |
| 6 | g.32089299T>G | CA449703131 | TNXB | c.2439A>C (p.Gly813=) c.2295A>C (p.Gly765=) | |
| 6 | g.32089300C>A | CA363464012 | TNXB | c.2438G>T (p.Gly813Val) c.2294G>T (p.Gly765Val) | |
| 6 | g.32089300C= | CA1619419681 | TNXB | c.2438G= (p.Gly813=) c.2294G= (p.Gly765=) | |
| 6 | g.32089300C>G | CA363464017 | TNXB | c.2438G>C (p.Gly813Ala) c.2294G>C (p.Gly765Ala) | gnomAD v4 |
| 6 | g.32089300C>T | CA363464036 | TNXB | c.2438G>A (p.Gly813Glu) c.2294G>A (p.Gly765Glu) | dbSNP |
| 6 | g.32089301C>A | CA363464044 | TNXB | c.2437G>T (p.Gly813Ter) c.2293G>T (p.Gly765Ter) | |
| 6 | g.32089301C= | CA1619419682 | TNXB | c.2437G= (p.Gly813=) c.2293G= (p.Gly765=) | |
| 6 | g.32089301C>G | CA363464052 | TNXB | c.2437G>C (p.Gly813Arg) c.2293G>C (p.Gly765Arg) | |
| 6 | g.32089301C>T | CA363464038 | TNXB | c.2437G>A (p.Gly813Arg) c.2293G>A (p.Gly765Arg) | dbSNP gnomAD v2 |
| 6 | g.32089302A= | CA1619419683 | TNXB | c.2436T= (p.Pro812=) c.2292T= (p.Pro764=) | |
| 6 | g.32089302A>C | CA449703132 | TNXB | c.2436T>G (p.Pro812=) c.2292T>G (p.Pro764=) | |
| 6 | g.32089302A>G | CA449703133 | TNXB | c.2436T>C (p.Pro812=) c.2292T>C (p.Pro764=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089302A>T | CA449703135 | TNXB | c.2436T>A (p.Pro812=) c.2292T>A (p.Pro764=) | |
| 6 | g.32089303G>A | CA363464071 | TNXB | c.2435C>T (p.Pro812Leu) c.2291C>T (p.Pro764Leu) | |
| 6 | g.32089303G>C | CA363464059 | TNXB | c.2435C>G (p.Pro812Arg) c.2291C>G (p.Pro764Arg) | |
| 6 | g.32089303G= | CA1619419684 | TNXB | c.2435C= (p.Pro812=) c.2291C= (p.Pro764=) | |
| 6 | g.32089303G>T | CA136900908 | TNXB | c.2435C>A (p.Pro812His) c.2291C>A (p.Pro764His) | dbSNP |
| 6 | g.32089306dup | CA2678098778 | TNXB | c.2435dup (p.Gly813TrpfsTer?) c.2291dup (p.Gly765TrpfsTer?) | gnomAD v4 |
| 6 | g.32089304G>A | CA363464087 | TNXB | c.2434C>T (p.Pro812Ser) c.2290C>T (p.Pro764Ser) | gnomAD v3 gnomAD v4 |
| 6 | g.32089304G>C | CA363464096 | TNXB | c.2434C>G (p.Pro812Ala) c.2290C>G (p.Pro764Ala) | dbSNP |
| 6 | g.32089304G= | CA1619419685 | TNXB | c.2434C= (p.Pro812=) c.2290C= (p.Pro764=) | |
| 6 | g.32089304G>T | CA363464102 | TNXB | c.2434C>A (p.Pro812Thr) c.2290C>A (p.Pro764Thr) | |
| 6 | g.32089305G>A | CA3735484 | TNXB | c.2433C>T (p.Ala811=) c.2289C>T (p.Ala763=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089305G>C | CA449703138 | TNXB | c.2433C>G (p.Ala811=) c.2289C>G (p.Ala763=) | |
| 6 | g.32089305G= | CA1619419686 | TNXB | c.2433C= (p.Ala811=) c.2289C= (p.Ala763=) | |
| 6 | g.32089305G>T | CA449703139 | TNXB | c.2433C>A (p.Ala811=) c.2289C>A (p.Ala763=) | |
| 6 | g.32089306G>A | CA363464120 | TNXB | c.2432C>T (p.Ala811Val) c.2288C>T (p.Ala763Val) | gnomAD v4 |
| 6 | g.32089306G>C | CA363464125 | TNXB | c.2432C>G (p.Ala811Gly) c.2288C>G (p.Ala763Gly) | |
| 6 | g.32089306G>T | CA363464126 | TNXB | c.2432C>A (p.Ala811Asp) c.2288C>A (p.Ala763Asp) | |
| 6 | g.32089307C>A | CA363464127 | TNXB | c.2431G>T (p.Ala811Ser) c.2287G>T (p.Ala763Ser) | |
| 6 | g.32089307C= | CA1619419687 | TNXB | c.2431G= (p.Ala811=) c.2287G= (p.Ala763=) | |
| 6 | g.32089307C>G | CA363464131 | TNXB | c.2431G>C (p.Ala811Pro) c.2287G>C (p.Ala763Pro) | |
| 6 | g.32089307C>T | CA363464142 | TNXB | c.2431G>A (p.Ala811Thr) c.2287G>A (p.Ala763Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32089308C>A | CA449703140 | TNXB | c.2430G>T (p.Leu810=) c.2286G>T (p.Leu762=) | dbSNP |
| 6 | g.32089308C>G | CA449703142 | TNXB | c.2430G>C (p.Leu810=) c.2286G>C (p.Leu762=) | |
| 6 | g.32089308C>T | CA449703141 | TNXB | c.2430G>A (p.Leu810=) c.2286G>A (p.Leu762=) | |
| 6 | g.32089309A>C | CA363464153 | TNXB | c.2429T>G (p.Leu810Arg) c.2285T>G (p.Leu762Arg) | |
| 6 | g.32089309A>G | CA363464158 | TNXB | c.2429T>C (p.Leu810Pro) c.2285T>C (p.Leu762Pro) | |
| 6 | g.32089309A>T | CA363464171 | TNXB | c.2429T>A (p.Leu810Gln) c.2285T>A (p.Leu762Gln) | |
| 6 | g.32089310G>A | CA449703143 | TNXB | c.2428C>T (p.Leu810=) c.2284C>T (p.Leu762=) | |
| 6 | g.32089310G>C | CA363464187 | TNXB | c.2428C>G (p.Leu810Val) c.2284C>G (p.Leu762Val) | |
| 6 | g.32089310G>T | CA363464180 | TNXB | c.2428C>A (p.Leu810Met) c.2284C>A (p.Leu762Met) | |
| 6 | g.32089311T>A | CA449703146 | TNXB | c.2427A>T (p.Gly809=) c.2283A>T (p.Gly761=) | |
| 6 | g.32089311T>C | CA449703148 | TNXB | c.2427A>G (p.Gly809=) c.2283A>G (p.Gly761=) | |
| 6 | g.32089311T>G | CA449703149 | TNXB | c.2427A>C (p.Gly809=) c.2283A>C (p.Gly761=) | |
| 6 | g.32089312C>A | CA363464198 | TNXB | c.2426G>T (p.Gly809Val) c.2282G>T (p.Gly761Val) | |
| 6 | g.32089312C>G | CA363464209 | TNXB | c.2426G>C (p.Gly809Ala) c.2282G>C (p.Gly761Ala) | |
| 6 | g.32089312C>T | CA363464227 | TNXB | c.2426G>A (p.Gly809Glu) c.2282G>A (p.Gly761Glu) | |
| 6 | g.32089313C>A | CA363464233 | TNXB | c.2425G>T (p.Gly809Ter) c.2281G>T (p.Gly761Ter) | |
| 6 | g.32089313C>G | CA363464245 | TNXB | c.2425G>C (p.Gly809Arg) c.2281G>C (p.Gly761Arg) | |
| 6 | g.32089313C>T | CA363464251 | TNXB | c.2425G>A (p.Gly809Arg) c.2281G>A (p.Gly761Arg) | |
| 6 | g.32089317_32089318del | CA2678098779 | TNXB | c.2424_2425del (p.Gly809ThrfsTer?) c.2280_2281del (p.Gly761ThrfsTer?) | gnomAD v4 |
| 6 | g.32089314T>A | CA363464261 | TNXB | c.2424A>T (p.Arg808Ser) c.2280A>T (p.Arg760Ser) | |
| 6 | g.32089314T>C | CA449703156 | TNXB | c.2424A>G (p.Arg808=) c.2280A>G (p.Arg760=) | |
| 6 | g.32089314T>G | CA363464265 | TNXB | c.2424A>C (p.Arg808Ser) c.2280A>C (p.Arg760Ser) | |
| 6 | g.32089315C>A | CA363464266 | TNXB | c.2423G>T (p.Arg808Ile) c.2279G>T (p.Arg760Ile) | |
| 6 | g.32089315C>G | CA363464267 | TNXB | c.2423G>C (p.Arg808Thr) c.2279G>C (p.Arg760Thr) | |
| 6 | g.32089315C>T | CA363464269 | TNXB | c.2423G>A (p.Arg808Lys) c.2279G>A (p.Arg760Lys) | |
| 6 | g.32089316T>A | CA363464270 | TNXB | c.2422A>T (p.Arg808Ter) c.2278A>T (p.Arg760Ter) | |
| 6 | g.32089316T>C | CA363464272 | TNXB | c.2422A>G (p.Arg808Gly) c.2278A>G (p.Arg760Gly) | |
| 6 | g.32089316T>G | CA449703159 | TNXB | c.2422A>C (p.Arg808=) c.2278A>C (p.Arg760=) | |
| 6 | g.32089317C>A | CA363464273 | TNXB | c.2421G>T (p.Gln807His) c.2277G>T (p.Gln759His) | |
| 6 | g.32089317C= | CA1619419688 | TNXB | c.2421G= (p.Gln807=) c.2277G= (p.Gln759=) | |
| 6 | g.32089317C>G | CA363464279 | TNXB | c.2421G>C (p.Gln807His) c.2277G>C (p.Gln759His) | |
| 6 | g.32089317C>T | CA449703160 | TNXB | c.2421G>A (p.Gln807=) c.2277G>A (p.Gln759=) | dbSNP |
| 6 | g.32089318T>A | CA363464285 | TNXB | c.2420A>T (p.Gln807Leu) c.2276A>T (p.Gln759Leu) | |
| 6 | g.32089318T>C | CA363464300 | TNXB | c.2420A>G (p.Gln807Arg) c.2276A>G (p.Gln759Arg) | |
| 6 | g.32089318T>G | CA363464305 | TNXB | c.2420A>C (p.Gln807Pro) c.2276A>C (p.Gln759Pro) | |
| 6 | g.32089319G>A | CA363464311 | TNXB | c.2419C>T (p.Gln807Ter) c.2275C>T (p.Gln759Ter) | |
| 6 | g.32089319G>C | CA363464316 | TNXB | c.2419C>G (p.Gln807Glu) c.2275C>G (p.Gln759Glu) | |
| 6 | g.32089319G>T | CA363464317 | TNXB | c.2419C>A (p.Gln807Lys) c.2275C>A (p.Gln759Lys) | |
| 6 | g.32089320G>A | CA449703165 | TNXB | c.2418C>T (p.Asp806=) c.2274C>T (p.Asp758=) | |
| 6 | g.32089320G>C | CA363464318 | TNXB | c.2418C>G (p.Asp806Glu) c.2274C>G (p.Asp758Glu) | |
| 6 | g.32089320G>T | CA363464322 | TNXB | c.2418C>A (p.Asp806Glu) c.2274C>A (p.Asp758Glu) | |
| 6 | g.32089321T>A | CA363464328 | TNXB | c.2417A>T (p.Asp806Val) c.2273A>T (p.Asp758Val) | |
| 6 | g.32089321T>C | CA363464344 | TNXB | c.2417A>G (p.Asp806Gly) c.2273A>G (p.Asp758Gly) | |
| 6 | g.32089321T>G | CA363464348 | TNXB | c.2417A>C (p.Asp806Ala) c.2273A>C (p.Asp758Ala) | |
| 6 | g.32089322C>A | CA363464352 | TNXB | c.2416G>T (p.Asp806Tyr) c.2272G>T (p.Asp758Tyr) | |
| 6 | g.32089322C>G | CA363464362 | TNXB | c.2416G>C (p.Asp806His) c.2272G>C (p.Asp758His) | |
| 6 | g.32089322C>T | CA363464366 | TNXB | c.2416G>A (p.Asp806Asn) c.2272G>A (p.Asp758Asn) | |
| 6 | g.32089323A>C | CA363464372 | TNXB | c.2415T>G (p.Tyr805Ter) c.2271T>G (p.Tyr757Ter) | |
| 6 | g.32089323A>G | CA449703167 | TNXB | c.2415T>C (p.Tyr805=) c.2271T>C (p.Tyr757=) | |
| 6 | g.32089323A>T | CA363464378 | TNXB | c.2415T>A (p.Tyr805Ter) c.2271T>A (p.Tyr757Ter) | |
| 6 | g.32089324T>A | CA363464384 | TNXB | c.2414A>T (p.Tyr805Phe) c.2270A>T (p.Tyr757Phe) | |
| 6 | g.32089324T>C | CA363464387 | TNXB | c.2414A>G (p.Tyr805Cys) c.2270A>G (p.Tyr757Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32089324T>G | CA363464392 | TNXB | c.2414A>C (p.Tyr805Ser) c.2270A>C (p.Tyr757Ser) | |
| 6 | g.32089324T= | CA1619419689 | TNXB | c.2414A= (p.Tyr805=) c.2270A= (p.Tyr757=) | |
| 6 | g.32089325A>C | CA363464394 | TNXB | c.2413T>G (p.Tyr805Asp) c.2269T>G (p.Tyr757Asp) | |
| 6 | g.32089325A>G | CA363464397 | TNXB | c.2413T>C (p.Tyr805His) c.2269T>C (p.Tyr757His) | gnomAD v4 |
| 6 | g.32089325A>T | CA363464401 | TNXB | c.2413T>A (p.Tyr805Asn) c.2269T>A (p.Tyr757Asn) | |
| 6 | g.32089326G>A | CA449703172 | TNXB | c.2412C>T (p.Ala804=) c.2268C>T (p.Ala756=) | |
| 6 | g.32089326G>C | CA449703173 | TNXB | c.2412C>G (p.Ala804=) c.2268C>G (p.Ala756=) | |
| 6 | g.32089326G>T | CA449703174 | TNXB | c.2412C>A (p.Ala804=) c.2268C>A (p.Ala756=) | |
| 6 | g.32089327G>A | CA363464408 | TNXB | c.2411C>T (p.Ala804Val) c.2267C>T (p.Ala756Val) | |
| 6 | g.32089327G>C | CA363464437 | TNXB | c.2411C>G (p.Ala804Gly) c.2267C>G (p.Ala756Gly) | gnomAD v4 |
| 6 | g.32089327G>T | CA363464443 | TNXB | c.2411C>A (p.Ala804Asp) c.2267C>A (p.Ala756Asp) | |
| 6 | g.32089328C>A | CA363464448 | TNXB | c.2410G>T (p.Ala804Ser) c.2266G>T (p.Ala756Ser) | |
| 6 | g.32089328C>G | CA363464450 | TNXB | c.2410G>C (p.Ala804Pro) c.2266G>C (p.Ala756Pro) | |
| 6 | g.32089328C>T | CA363464451 | TNXB | c.2410G>A (p.Ala804Thr) c.2266G>A (p.Ala756Thr) | |
| 6 | g.32089329T>A | CA449703177 | TNXB | c.2409A>T (p.Ser803=) c.2265A>T (p.Ser755=) | |
| 6 | g.32089329T>C | CA449703178 | TNXB | c.2409A>G (p.Ser803=) c.2265A>G (p.Ser755=) | |
| 6 | g.32089329T>G | CA3735485 | TNXB | c.2409A>C (p.Ser803=) c.2265A>C (p.Ser755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089329T= | CA1619419690 | TNXB | c.2409A= (p.Ser803=) c.2265A= (p.Ser755=) | |
| 6 | g.32089330G>A | CA363464458 | TNXB | c.2408C>T (p.Ser803Leu) c.2264C>T (p.Ser755Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.32089330G>C | CA363464457 | TNXB | c.2408C>G (p.Ser803Ter) c.2264C>G (p.Ser755Ter) | gnomAD v4 |
| 6 | g.32089330G>T | CA363464459 | TNXB | c.2408C>A (p.Ser803Ter) c.2264C>A (p.Ser755Ter) | |
| 6 | g.32089331A>C | CA363464462 | TNXB | c.2407T>G (p.Ser803Ala) c.2263T>G (p.Ser755Ala) | |
| 6 | g.32089331A>G | CA363464472 | TNXB | c.2407T>C (p.Ser803Pro) c.2263T>C (p.Ser755Pro) | gnomAD v4 |
| 6 | g.32089331A>T | CA363464488 | TNXB | c.2407T>A (p.Ser803Thr) c.2263T>A (p.Ser755Thr) | |
| 6 | g.32089332G>A | CA3735486 | TNXB | c.2406C>T (p.Ala802=) c.2262C>T (p.Ala754=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089332G>C | CA449703182 | TNXB | c.2406C>G (p.Ala802=) c.2262C>G (p.Ala754=) | |
| 6 | g.32089332G= | CA1619419691 | TNXB | c.2406C= (p.Ala802=) c.2262C= (p.Ala754=) | |
| 6 | g.32089332G>T | CA449703183 | TNXB | c.2406C>A (p.Ala802=) c.2262C>A (p.Ala754=) | |
| 6 | g.32089333G>A | CA363464493 | TNXB | c.2405C>T (p.Ala802Val) c.2261C>T (p.Ala754Val) | |
| 6 | g.32089333G>C | CA363464494 | TNXB | c.2405C>G (p.Ala802Gly) c.2261C>G (p.Ala754Gly) | |
| 6 | g.32089333G>T | CA363464495 | TNXB | c.2405C>A (p.Ala802Asp) c.2261C>A (p.Ala754Asp) | |
| 6 | g.32089334C>A | CA363464519 | TNXB | c.2404G>T (p.Ala802Ser) c.2260G>T (p.Ala754Ser) | |
| 6 | g.32089334C= | CA1619419692 | TNXB | c.2404G= (p.Ala802=) c.2260G= (p.Ala754=) | |
| 6 | g.32089334C>G | CA363464525 | TNXB | c.2404G>C (p.Ala802Pro) c.2260G>C (p.Ala754Pro) | |
| 6 | g.32089334C>T | CA3735487 | TNXB | c.2404G>A (p.Ala802Thr) c.2260G>A (p.Ala754Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.32089335A>C | CA449703185 | TNXB | c.2403T>G (p.Ser801=) c.2259T>G (p.Ser753=) | |
| 6 | g.32089335A>G | CA449703186 | TNXB | c.2403T>C (p.Ser801=) c.2259T>C (p.Ser753=) | |
| 6 | g.32089335A>T | CA449703187 | TNXB | c.2403T>A (p.Ser801=) c.2259T>A (p.Ser753=) | |
| 6 | g.32089336G>A | CA363464560 | TNXB | c.2402C>T (p.Ser801Phe) c.2258C>T (p.Ser753Phe) | dbSNP |
| 6 | g.32089336G>C | CA363464564 | TNXB | c.2402C>G (p.Ser801Cys) c.2258C>G (p.Ser753Cys) | dbSNP |
| 6 | g.32089336G= | CA1619419693 | TNXB | c.2402C= (p.Ser801=) c.2258C= (p.Ser753=) | |
| 6 | g.32089336G>T | CA363464571 | TNXB | c.2402C>A (p.Ser801Tyr) c.2258C>A (p.Ser753Tyr) | |
| 6 | g.32089337A= | CA1619419694 | TNXB | c.2401T= (p.Ser801=) c.2257T= (p.Ser753=) | |
| 6 | g.32089337A>C | CA363464603 | TNXB | c.2401T>G (p.Ser801Ala) c.2257T>G (p.Ser753Ala) | |
| 6 | g.32089337A>G | CA3735488 | TNXB | c.2401T>C (p.Ser801Pro) c.2257T>C (p.Ser753Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089337A>T | CA363464588 | TNXB | c.2401T>A (p.Ser801Thr) c.2257T>A (p.Ser753Thr) | |
| 6 | g.32089338G>A | CA449703194 | TNXB | c.2400C>T (p.Ser800=) c.2256C>T (p.Ser752=) | gnomAD v4 |
| 6 | g.32089338G>C | CA363464609 | TNXB | c.2400C>G (p.Ser800Arg) c.2256C>G (p.Ser752Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32089338G= | CA1619419695 | TNXB | c.2400C= (p.Ser800=) c.2256C= (p.Ser752=) | |
| 6 | g.32089338G>T | CA136900918 | TNXB | c.2400C>A (p.Ser800Arg) c.2256C>A (p.Ser752Arg) | dbSNP COSMIC COSMIC |
| 6 | g.32089339C>A | CA363464616 | TNXB | c.2399G>T (p.Ser800Ile) c.2255G>T (p.Ser752Ile) | |
| 6 | g.32089339C>G | CA363464644 | TNXB | c.2399G>C (p.Ser800Thr) c.2255G>C (p.Ser752Thr) | |
| 6 | g.32089339C>T | CA363464653 | TNXB | c.2399G>A (p.Ser800Asn) c.2255G>A (p.Ser752Asn) | |
| 6 | g.32089340T>A | CA363464658 | TNXB | c.2398A>T (p.Ser800Cys) c.2254A>T (p.Ser752Cys) | |
| 6 | g.32089340T>C | CA363464659 | TNXB | c.2398A>G (p.Ser800Gly) c.2254A>G (p.Ser752Gly) | |
| 6 | g.32089340T>G | CA363464660 | TNXB | c.2398A>C (p.Ser800Arg) c.2254A>C (p.Ser752Arg) | |
| 6 | g.32089341T>A | CA449703202 | TNXB | c.2397A>T (p.Pro799=) c.2253A>T (p.Pro751=) | |
| 6 | g.32089341T>C | CA449703200 | TNXB | c.2397A>G (p.Pro799=) c.2253A>G (p.Pro751=) | |
| 6 | g.32089341T>G | CA449703199 | TNXB | c.2397A>C (p.Pro799=) c.2253A>C (p.Pro751=) | |
| 6 | g.32089342G>A | CA3735489 | TNXB | c.2396C>T (p.Pro799Leu) c.2252C>T (p.Pro751Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32089342G>C | CA3735490 | TNXB | c.2396C>G (p.Pro799Arg) c.2252C>G (p.Pro751Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32089342G= | CA1619419696 | TNXB | c.2396C= (p.Pro799=) c.2252C= (p.Pro751=) | |
| 6 | g.32089342G>T | CA363464666 | TNXB | c.2396C>A (p.Pro799Gln) c.2252C>A (p.Pro751Gln) | gnomAD v4 |
| 6 | g.32089343G>A | CA363464707 | TNXB | c.2395C>T (p.Pro799Ser) c.2251C>T (p.Pro751Ser) | |
| 6 | g.32089343G>C | CA363464695 | TNXB | c.2395C>G (p.Pro799Ala) c.2251C>G (p.Pro751Ala) | |
| 6 | g.32089343G>T | CA363464672 | TNXB | c.2395C>A (p.Pro799Thr) c.2251C>A (p.Pro751Thr) | |
| 6 | g.32089344A= | CA1619419697 | TNXB | c.2394T= (p.Val798=) c.2250T= (p.Val750=) | |
| 6 | g.32089344A>C | CA449703208 | TNXB | c.2394T>G (p.Val798=) c.2250T>G (p.Val750=) | |
| 6 | g.32089344A>G | CA449703206 | TNXB | c.2394T>C (p.Val798=) c.2250T>C (p.Val750=) | dbSNP |
| 6 | g.32089344A>T | CA449703207 | TNXB | c.2394T>A (p.Val798=) c.2250T>A (p.Val750=) | |
| 6 | g.32089345A>C | CA363464731 | TNXB | c.2393T>G (p.Val798Gly) c.2249T>G (p.Val750Gly) | |
| 6 | g.32089345A>G | CA363464735 | TNXB | c.2393T>C (p.Val798Ala) c.2249T>C (p.Val750Ala) | |
| 6 | g.32089345A>T | CA363464742 | TNXB | c.2393T>A (p.Val798Asp) c.2249T>A (p.Val750Asp) | |
| 6 | g.32089346C>A | CA363464744 | TNXB | c.2392G>T (p.Val798Phe) c.2248G>T (p.Val750Phe) | gnomAD v4 |
| 6 | g.32089346C= | CA1619419698 | TNXB | c.2392G= (p.Val798=) c.2248G= (p.Val750=) | |
| 6 | g.32089346C>G | CA363464751 | TNXB | c.2392G>C (p.Val798Leu) c.2248G>C (p.Val750Leu) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089346C>T | CA363464755 | TNXB | c.2392G>A (p.Val798Ile) c.2248G>A (p.Val750Ile) | dbSNP gnomAD v4 |
| 6 | g.32089347C>A | CA449703213 | TNXB | c.2391G>T (p.Arg797=) c.2247G>T (p.Arg749=) | gnomAD v4 |
| 6 | g.32089347C= | CA1619419699 | TNXB | c.2391G= (p.Arg797=) c.2247G= (p.Arg749=) | |
| 6 | g.32089347C>G | CA449703214 | TNXB | c.2391G>C (p.Arg797=) c.2247G>C (p.Arg749=) | |
| 6 | g.32089347C>T | CA449703215 | TNXB | c.2391G>A (p.Arg797=) c.2247G>A (p.Arg749=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.32089348C>A | CA363464760 | TNXB | c.2390G>T (p.Arg797Leu) c.2246G>T (p.Arg749Leu) | gnomAD v4 |
| 6 | g.32089348C= | CA1619419700 | TNXB | c.2390G= (p.Arg797=) c.2246G= (p.Arg749=) | |
| 6 | g.32089348C>G | CA363464759 | TNXB | c.2390G>C (p.Arg797Pro) c.2246G>C (p.Arg749Pro) | |
| 6 | g.32089348C>T | CA3735491 | TNXB | c.2390G>A (p.Arg797Gln) c.2246G>A (p.Arg749Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089349G>A | CA3735492 | TNXB | c.2389C>T (p.Arg797Trp) c.2245C>T (p.Arg749Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.32089349G>C | CA363464761 | TNXB | c.2389C>G (p.Arg797Gly) c.2245C>G (p.Arg749Gly) | gnomAD v4 |
| 6 | g.32089349G= | CA1619419701 | TNXB | c.2389C= (p.Arg797=) c.2245C= (p.Arg749=) | |
| 6 | g.32089349G>T | CA449703219 | TNXB | c.2389C>A (p.Arg797=) c.2245C>A (p.Arg749=) | |
| 6 | g.32089350T>A | CA449703220 | TNXB | c.2388A>T (p.Ala796=) c.2244A>T (p.Ala748=) | |
| 6 | g.32089350T>C | CA449703221 | TNXB | c.2388A>G (p.Ala796=) c.2244A>G (p.Ala748=) | dbSNP gnomAD v4 |
| 6 | g.32089350T>G | CA449703222 | TNXB | c.2388A>C (p.Ala796=) c.2244A>C (p.Ala748=) | |
| 6 | g.32089350T= | CA1619419702 | TNXB | c.2388A= (p.Ala796=) c.2244A= (p.Ala748=) | |
| 6 | g.32089351G>A | CA363464763 | TNXB | c.2387C>T (p.Ala796Val) c.2243C>T (p.Ala748Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32089351G>C | CA363464780 | TNXB | c.2387C>G (p.Ala796Gly) c.2243C>G (p.Ala748Gly) | |
| 6 | g.32089351G= | CA1619419703 | TNXB | c.2387C= (p.Ala796=) c.2243C= (p.Ala748=) | |
| 6 | g.32089351G>T | CA363464789 | TNXB | c.2387C>A (p.Ala796Glu) c.2243C>A (p.Ala748Glu) | |
| 6 | g.32089352C>A | CA363464799 | TNXB | c.2386G>T (p.Ala796Ser) c.2243-1G>T (n.2243-1G>T) | |
| 6 | g.32089352C>G | CA363464807 | TNXB | c.2386G>C (p.Ala796Pro) c.2243-1G>C (n.2243-1G>C) | |
| 6 | g.32089352C>T | CA363464804 | TNXB | c.2386G>A (p.Ala796Thr) c.2243-1G>A (n.2243-1G>A) | |
| 6 | g.32089353T>A | CA363464813 | TNXB | c.2385A>T (p.Thr795=) c.2243-2A>T (n.2243-2A>T) | |
| 6 | g.32089353T>C | CA3735493 | TNXB | c.2385A>G (p.Thr795=) c.2243-2A>G (n.2243-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089353T>G | CA3735494 | TNXB | c.2385A>C (p.Thr795=) c.2243-2A>C (n.2243-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32089353T= | CA1619419704 | TNXB | c.2385A= (p.Thr795=) c.2243-2A= (n.2243-2A=) | |
| 6 | g.32089354G>A | CA363464818 | TNXB | c.2384C>T (p.Thr795Ile) c.2243-3C>T (n.2243-3C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.32089354G>C | CA363464819 | TNXB | c.2384C>G (p.Thr795Arg) c.2243-3C>G (n.2243-3C>G) | |
| 6 | g.32089354G>T | CA363464820 | TNXB | c.2384C>A (p.Thr795Lys) c.2243-3C>A (n.2243-3C>A) | |
| 6 | g.32089355T>A | CA363464821 | TNXB | c.2383A>T (p.Thr795Ser) c.2243-4A>T (n.2243-4A>T) | |
| 6 | g.32089355T>C | CA363464822 | TNXB | c.2383A>G (p.Thr795Ala) c.2243-4A>G (n.2243-4A>G) | |
| 6 | g.32089355T>G | CA363464823 | TNXB | c.2383A>C (p.Thr795Pro) c.2243-4A>C (n.2243-4A>C) | |
| 6 | g.32089356G>A | CA449703228 | TNXB | c.2382C>T (p.Phe794=) c.2243-5C>T (n.2243-5C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32089356G>C | CA363464825 | TNXB | c.2382C>G (p.Phe794Leu) c.2243-5C>G (n.2243-5C>G) | |
| 6 | g.32089356G= | CA1619419705 | TNXB | c.2382C= (p.Phe794=) c.2243-5C= (n.2243-5C=) | |
| 6 | g.32089356G>T | CA363464828 | TNXB | c.2382C>A (p.Phe794Leu) c.2243-5C>A (n.2243-5C>A) | gnomAD v4 |
| 6 | g.32089357A>C | CA363464837 | TNXB | c.2381T>G (p.Phe794Cys) c.2243-6T>G (n.2243-6T>G) | |
| 6 | g.32089357A>G | CA363464841 | TNXB | c.2381T>C (p.Phe794Ser) c.2243-6T>C (n.2243-6T>C) | gnomAD v4 COSMIC COSMIC |
| 6 | g.32089357A>T | CA363464833 | TNXB | c.2381T>A (p.Phe794Tyr) c.2243-6T>A (n.2243-6T>A) | |
| 6 | g.32089358A>C | CA363464862 | TNXB | c.2380T>G (p.Phe794Val) c.2243-7T>G (n.2243-7T>G) | |
| 6 | g.32089358A>G | CA363464859 | TNXB | c.2380T>C (p.Phe794Leu) c.2243-7T>C (n.2243-7T>C) | |
| 6 | g.32089358A>T | CA363464863 | TNXB | c.2380T>A (p.Phe794Ile) c.2243-7T>A (n.2243-7T>A) | |
| 6 | g.32089359T>A | CA449703233 | TNXB | c.2379A>T (p.Pro793=) c.2243-8A>T (n.2243-8A>T) | |
| 6 | g.32089359T>C | CA449703234 | TNXB | c.2379A>G (p.Pro793=) c.2243-8A>G (n.2243-8A>G) | |
| 6 | g.32089359T>G | CA449703232 | TNXB | c.2379A>C (p.Pro793=) c.2243-8A>C (n.2243-8A>C) | |
| 6 | g.32089359T= | CA1619419706 | TNXB | c.2379A= (p.Pro793=) c.2243-8A= (n.2243-8A=) | |
| 6 | g.32089360G>A | CA363464880 | TNXB | c.2378C>T (p.Pro793Leu) c.2243-9C>T (n.2243-9C>T) | |
| 6 | g.32089360G>C | CA363464888 | TNXB | c.2378C>G (p.Pro793Arg) c.2243-9C>G (n.2243-9C>G) | |
| 6 | g.32089360G>T | CA363464882 | TNXB | c.2378C>A (p.Pro793Gln) c.2243-9C>A (n.2243-9C>A) | gnomAD v4 |
| 6 | g.32089365dup | CA1087501989 | TNXB | c.2378dup (p.Phe794IlefsTer13) c.2243-9dup (n.2243-9dup) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32089365del | CA645555535 | TNXB | c.2378del (p.Pro793HisfsTer?) c.2243-9del (n.2243-9del) | gnomAD v4 COSMIC COSMIC |
| 6 | g.32089361G>A | CA363464913 | TNXB | c.2377C>T (p.Pro793Ser) c.2243-10C>T (n.2243-10C>T) | ClinVar dbSNP gnomAD v2 |
| 6 | g.32089361G>C | CA363464930 | TNXB | c.2377C>G (p.Pro793Ala) c.2243-10C>G (n.2243-10C>G) | |
| 6 | g.32089361G= | CA1619419707 | TNXB | c.2377C= (p.Pro793=) c.2243-10C= (n.2243-10C=) | |
| 6 | g.32089361G>T | CA363464936 | TNXB | c.2377C>A (p.Pro793Thr) c.2243-10C>A (n.2243-10C>A) | |
| 6 | g.32089362G>A | CA449703241 | TNXB | c.2376C>T (p.Pro792=) c.2243-11C>T (n.2243-11C>T) | |
| 6 | g.32089362G>C | CA449703239 | TNXB | c.2376C>G (p.Pro792=) c.2243-11C>G (n.2243-11C>G) | |
| 6 | g.32089362G>T | CA449703240 | TNXB | c.2376C>A (p.Pro792=) c.2243-11C>A (n.2243-11C>A) | gnomAD v4 |
| 6 | g.32089363G>A | CA363464941 | TNXB | c.2375C>T (p.Pro792Leu) c.2243-12C>T (n.2243-12C>T) | dbSNP gnomAD v4 |
| 6 | g.32089363G>C | CA363464954 | TNXB | c.2375C>G (p.Pro792Arg) c.2243-12C>G (n.2243-12C>G) | |
| 6 | g.32089363G= | CA1619419708 | TNXB | c.2375C= (p.Pro792=) c.2243-12C= (n.2243-12C=) | |
| 6 | g.32089363G>T | CA363464958 | TNXB | c.2375C>A (p.Pro792His) c.2243-12C>A (n.2243-12C>A) | |
| 6 | g.32089364G>A | CA363464959 | TNXB | c.2374C>T (p.Pro792Ser) c.2243-13C>T (n.2243-13C>T) | dbSNP gnomAD v4 |
| 6 | g.32089364G>C | CA363464965 | TNXB | c.2374C>G (p.Pro792Ala) c.2243-13C>G (n.2243-13C>G) | |
| 6 | g.32089364G= | CA1619419709 | TNXB | c.2374C= (p.Pro792=) c.2243-13C= (n.2243-13C=) | |
| 6 | g.32089364G>T | CA363464980 | TNXB | c.2374C>A (p.Pro792Thr) c.2243-13C>A (n.2243-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32089365G>A | CA3735495 | TNXB | c.2373C>T (p.Ser791=) c.2243-14C>T (n.2243-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089365G>C | CA363464986 | TNXB | c.2373C>G (p.Ser791Arg) c.2243-14C>G (n.2243-14C>G) | |
| 6 | g.32089365G= | CA1619419710 | TNXB | c.2373C= (p.Ser791=) c.2243-14C= (n.2243-14C=) | |
| 6 | g.32089365G>T | CA363464989 | TNXB | c.2373C>A (p.Ser791Arg) c.2243-14C>A (n.2243-14C>A) | dbSNP gnomAD v4 |
| 6 | g.32089366C>A | CA363464996 | TNXB | c.2372G>T (p.Ser791Ile) c.2243-15G>T (n.2243-15G>T) | |
| 6 | g.32089366C>G | CA363465010 | TNXB | c.2372G>C (p.Ser791Thr) c.2243-15G>C (n.2243-15G>C) | |
| 6 | g.32089366C>T | CA363465001 | TNXB | c.2372G>A (p.Ser791Asn) c.2243-15G>A (n.2243-15G>A) | gnomAD v4 COSMIC |
| 6 | g.32089367T>A | CA363465016 | TNXB | c.2371A>T (p.Ser791Cys) c.2243-16A>T (n.2243-16A>T) | |
| 6 | g.32089367T>C | CA363465019 | TNXB | c.2371A>G (p.Ser791Gly) c.2243-16A>G (n.2243-16A>G) | |
| 6 | g.32089367T>G | CA363465022 | TNXB | c.2371A>C (p.Ser791Arg) c.2243-16A>C (n.2243-16A>C) | |
| 6 | g.32089368C>A | CA449703244 | TNXB | c.2370G>T (p.Ala790=) c.2243-17G>T (n.2243-17G>T) | gnomAD v4 |
| 6 | g.32089368C= | CA1619419711 | TNXB | c.2370G= (p.Ala790=) c.2243-17G= (n.2243-17G=) | |
| 6 | g.32089368C>G | CA449703245 | TNXB | c.2370G>C (p.Ala790=) c.2243-17G>C (n.2243-17G>C) | |
| 6 | g.32089368C>T | CA449703246 | TNXB | c.2370G>A (p.Ala790=) c.2243-17G>A (n.2243-17G>A) | dbSNP gnomAD v4 |
| 6 | g.32089369G>A | CA363465033 | TNXB | c.2369C>T (p.Ala790Val) c.2243-18C>T (n.2243-18C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.32089369G>C | CA363465037 | TNXB | c.2369C>G (p.Ala790Gly) c.2243-18C>G (n.2243-18C>G) | |
| 6 | g.32089369G= | CA1619419712 | TNXB | c.2369C= (p.Ala790=) c.2243-18C= (n.2243-18C=) | |
| 6 | g.32089369G>T | CA363465040 | TNXB | c.2369C>A (p.Ala790Glu) c.2243-18C>A (n.2243-18C>A) | gnomAD v4 |
| 6 | g.32089370C>A | CA363465045 | TNXB | c.2368G>T (p.Ala790Ser) c.2243-19G>T (n.2243-19G>T) | |
| 6 | g.32089370C>G | CA363465046 | TNXB | c.2368G>C (p.Ala790Pro) c.2243-19G>C (n.2243-19G>C) | |
| 6 | g.32089370C>T | CA363465048 | TNXB | c.2368G>A (p.Ala790Thr) c.2243-19G>A (n.2243-19G>A) | gnomAD v4 |
| 6 | g.32089374del | CA2678098783 | TNXB | c.2368del (p.Ala790ArgfsTer?) c.2243-19del (n.2243-19del) | gnomAD v4 |
| 6 | g.32089371C>A | CA449703250 | TNXB | c.2367G>T (p.Gly789=) c.2243-20G>T (n.2243-20G>T) | |
| 6 | g.32089371C= | CA1619419713 | TNXB | c.2367G= (p.Gly789=) c.2243-20G= (n.2243-20G=) | |
| 6 | g.32089371C>G | CA449703251 | TNXB | c.2367G>C (p.Gly789=) c.2243-20G>C (n.2243-20G>C) | |
| 6 | g.32089371C>T | CA3735496 | TNXB | c.2367G>A (p.Gly789=) c.2243-20G>A (n.2243-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089372C>A | CA363465059 | TNXB | c.2366G>T (p.Gly789Val) c.2243-21G>T (n.2243-21G>T) | |
| 6 | g.32089372C= | CA1619419714 | TNXB | c.2366G= (p.Gly789=) c.2243-21G= (n.2243-21G=) | |
| 6 | g.32089372C>G | CA363465060 | TNXB | c.2366G>C (p.Gly789Ala) c.2243-21G>C (n.2243-21G>C) | gnomAD v4 |
| 6 | g.32089372C>T | CA3735497 | TNXB | c.2366G>A (p.Gly789Glu) c.2243-21G>A (n.2243-21G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32089373C>A | CA363465061 | TNXB | c.2365G>T (p.Gly789Trp) c.2243-22G>T (n.2243-22G>T) | |
| 6 | g.32089373C>G | CA363465062 | TNXB | c.2365G>C (p.Gly789Arg) c.2243-22G>C (n.2243-22G>C) | |
| 6 | g.32089373C>T | CA363465063 | TNXB | c.2365G>A (p.Gly789Arg) c.2243-22G>A (n.2243-22G>A) | |
| 6 | g.32089373_32089375delinsCCT | CA1619419715 | TNXB | c.2363_2365delinsAGG (p.Glu788=) c.2243-24_2243-22delinsAGG (n.2243-24_2243-22delinsAGG) | |
| 6 | g.32089374C>A | CA363465070 | TNXB | c.2364G>T (p.Glu788Asp) c.2243-23G>T (n.2243-23G>T) | |
| 6 | g.32089374C>G | CA363465071 | TNXB | c.2364G>C (p.Glu788Asp) c.2243-23G>C (n.2243-23G>C) | |
| 6 | g.32089374C>T | CA449703256 | TNXB | c.2364G>A (p.Glu788=) c.2243-23G>A (n.2243-23G>A) | gnomAD v4 |
| 6 | g.32089376_32089377del | CA363465076 | TNXB | c.2363_2364del (p.Glu788GlyfsTer18) c.2243-24_2243-23del (n.2243-24_2243-23del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32089375T>A | CA363465083 | TNXB | c.2363A>T (p.Glu788Val) c.2243-24A>T (n.2243-24A>T) | |
| 6 | g.32089375T>C | CA363465087 | TNXB | c.2363A>G (p.Glu788Gly) c.2243-24A>G (n.2243-24A>G) | |
| 6 | g.32089375T>G | CA363465091 | TNXB | c.2363A>C (p.Glu788Ala) c.2243-24A>C (n.2243-24A>C) | |
| 6 | g.32089376C>A | CA363465095 | TNXB | c.2362G>T (p.Glu788Ter) c.2243-25G>T (n.2243-25G>T) | |
| 6 | g.32089376C= | CA1619419716 | TNXB | c.2362G= (p.Glu788=) c.2243-25G= (n.2243-25G=) | |
| 6 | g.32089376C>G | CA363465106 | TNXB | c.2362G>C (p.Glu788Gln) c.2243-25G>C (n.2243-25G>C) | |
| 6 | g.32089376C>T | CA3735498 | TNXB | c.2362G>A (p.Glu788Lys) c.2243-25G>A (n.2243-25G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32089377T>A | CA449703259 | TNXB | c.2361A>T (p.Thr787=) c.2243-26A>T (n.2243-26A>T) | |
| 6 | g.32089377T>C | CA449703261 | TNXB | c.2361A>G (p.Thr787=) c.2243-26A>G (n.2243-26A>G) | |
| 6 | g.32089377T>G | CA449703263 | TNXB | c.2361A>C (p.Thr787=) c.2243-26A>C (n.2243-26A>C) |